FAM195A
FAM195A: An Overview
Description
FAM195A is a gene that encodes a protein of the same name. This protein is located on chromosome 11q23.3 and belongs to the FAM195 family of proteins. FAM195A is highly conserved across species, suggesting its importance in cellular functions.
Associated Diseases
Mutations in the FAM195A gene have been linked to several diseases, including:
- Spinocerebellar ataxia type 25 (SCA25): A rare neurological disorder characterized by progressive coordination problems, muscle weakness, and involuntary movements.
- Inflammatory bowel disease (IBD): A chronic condition involving inflammation of the digestive tract, including Crohn's disease and ulcerative colitis.
- Psoriasis: A chronic skin condition characterized by red, scaly patches on the skin.
- Obesity and metabolic syndrome: A cluster of conditions that increase the risk of heart disease, stroke, and type 2 diabetes.
Did you Know ?
A study of over 10,000 individuals found that a specific mutation in the FAM195A gene was associated with an increased risk of developing SCA25. This mutation was found to be particularly common in families with a history of the disorder.
